Achondroplasia, Its Nature and Its Cause PDF Download

Author: Murk Jansen
Publisher:
ISBN:
Category : Achondroplasia
Languages : en
Pages : 122

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Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104

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Book Description
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678

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Book Description
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Author: Benedetto Nicoletti
Publisher: Springer Science & Business Media
ISBN: 1468487124
Category : Medical
Languages : en
Pages : 471

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Proceedings of the first international symposium held in Rome, Nov. 1986, study the problems of shortness of stature and attempt to find answers to the life-threatening and disabling impairments that affect achondroplasts. Contributions address genetics, ultrastructure, and cartilage histochemistry;

Author: Amr Abdelgawad
Publisher: Springer Science & Business Media
ISBN: 1461471265
Category : Medical
Languages : en
Pages : 589

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Book Description
​Topics in pediatric orthopedics routinely surface in general pediatrics and primary care, whether on board exams or in clinical practice. From birth injuries to musculoskeletal infections, there are many conditions and presenting complaints that must be addressed by the primary care physician or pediatrician. This concise and targeted handbook contains just the need to know conditions, injuries, and diseases necessary for residents and even seasoned clinicians to brush up on pediatric orthopedic topics with ease. Information is contained within themed chapters (like neuromuscular diseases or musculoskeletal infections) and also by anatomical region (hip, knee foot, spine, etc.). This book gives readers the basic knowledge to be able to identify common orthopedic conditions, indications to either treat these conditions or refer patient to an orthopedist, and covers the entire required curriculum needed to answer musculoskeletal questions on the pediatrics board exam.

Author: K. Mohan Iyer
Publisher: Springer
ISBN: 3030150895
Category : Medical
Languages : en
Pages : 779

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Book Description
The second edition of this book concisely covers the most recent developments in orthopedics and trauma. It features detailed descriptions, x rays, clinical and therapeutic pathway diagrams for a number of commonly encountered disorders including fractures, metabolic disorders, bone tumors, and amputations enabling the reader to develop a deep understanding of the latest information on how to successfully diagnose and treat these patients. General Principles of Orthopedics and Trauma is an ideal resource for trainees and junior surgeons seeking an easy to follow clinical guide on how to successfully diagnose and treat patients with orthopedic and trauma disorders. It is also of use to the experienced practitioner seeking a practically applicable text on the latest advances in the field.

Author: Veronique Dasen
Publisher: Oxford University Press
ISBN: 0199680868
Category : History
Languages : en
Pages : 468

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Book Description
This book examines dwarfs in myth and everyday life in ancient Egypt and Greece. The spectacular forms of dwarfism were always a focus of interest, and it is the most depicted disorder in antiquity. Dasen brings together a whole range of mostly unpublished or little-known iconographic, epigraphic, literary, and anthropological evidence.

Author: Irving M. Shapiro
Publisher: IOS Press
ISBN: 9781586032401
Category : Computers
Languages : en
Pages : 312

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Book Description
Evidence generated by a number of genetic studies indicates that growth is regulated by a number of genes and that interference with their expression can have catastrophic effects on the well being of the whole organism. This work covers skeletal development and growth.

Author: Amr Abdelgawad
Publisher: Springer Nature
ISBN: 3030481387
Category : Medical
Languages : en
Pages : 464

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Book Description
The revised and the expanded second edition of this concise and targeted handbook presents the “need-to-know” musculoskeletal conditions and injuries required for all health care providers dealing with pediatric patients, including primary care physicians, emergency medicine physicians, radiologists, residents, students, nurses, and therapists, to brush up on pediatric orthopedics and sports medicine topics with ease. The most up-to-date information is contained within themed chapters--sports injuries and pediatric trauma, for example--as well as by anatomical region--the hip, knee, foot, spine, etc.--including chapters new to this edition covering pediatric musculoskeletal image interpretation and general aspects of sports medicine. This book addresses high-yield points needed for both general day-to-day pediatric orthopedics and sports medicine practice as well as information needed for the musculoskeletal section of the General Pediatrics Certifying Examination and other board exams for other specialties, physician assistants, nurse practitioners, and physical therapists. Well-illustrated and utilizing an easy-to-follow, bullet-pointed format, Pediatric Orthopedics and Sports Medicine gives the reader the basic knowledge to be able to identify and understand the management of common pediatric orthopedic and sports medicine conditions, and indications to either treat these conditions or refer the patient to an orthopedist.

Author: Toshitaka Oohashi
Publisher: Springer
ISBN: 981132977X
Category : Medical
Languages : en
Pages : 343

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Book Description
This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.